Search

Objective: Our aim was to evaluate the contribution of flow cytometry (FC) analysis in patients with a histopathological diagnosis of mantle cell lymphoma (MCL) and to develop a reliable scoring system. Materials and Methods: We assessed the results of FC analysis in peripheral blood or bone marrow samples of 36 patients diagnosed with MCL by histopathological evaluation. Multivariate analysis identified 5 variables associated with MCL: CD23 negativity, CD5/19 common positivity, CD20/22 common bright positivity, FMC7 positivity, and clonal sIg bright positivity. A 5-point scoring system was devised using these parameters. Results: Twenty-five patients (69.4%) scored 5 points, 8 (22.2%) scored 4 points, and 3 (8.4%) scored 3 points. The diag- nosis of MCL was confirmed by FC immunophenotyping in 91.6% of the patients. Conclusion: Our results suggest that a quintet diagnostic scoring system, which is considered to be reliable in the diagnosis of MCL, could make a substantial contribution to diagnosis and should be more widely introduced in practice.

Chronic granulomatous disease (CGD) is an uncommon congenital phagocyte disorder characterized by recurrent life-threatening infections. CGD generally present with recurrent suppurative infections, however, intracranial fungal abscess complicating CGD may cause a diagnostic problem to anyone unfamiliar with its clinical and radiological features., BACKGROUND: Chronic granulomatous disease (CGD) is an uncommon congenital phagocyte disorder characterized by recurrent life-threatening infections. CGD generally present with recurrent suppurative infections, however, intracranial fungal abscess complicating CGD may cause a diagnostic problem to anyone unfamiliar with its clinical and radiological features.HISTORY: We report the case of a 16-year-old boy who was consulted with a differential diagnosis of an intracranial tumor. The clues of his medical history and physical examination made us consider the diagnosis of CGD. Cytometric dihydrorhodamine assay and genotyping confirmed an autosomal recessive CGD. He was successfully treated without any complication or sequel for 18 months follow-up period with surgery and interferon-gamma, in addition with, liposomal amphotericin B and voriconazole that were found to be sensitive to the Aspergillus fumigates, which had been grown from the culture of the abscess cavity.DISCUSSION: We discuss the pathogenesis, radiological techniques, and management of cerebral Aspergillus abscess in a patient with CGD.CONCLUSION: Presentation of CGD with a cerebral Aspergillus abscess, mimicking a brain tumor is extremely rare in children; clinicians and neurosurgeons must be aware. The best management modality for cerebral Aspergillus abscess is to be vigilant about the disease, whereas adjuvant surgical and medical therapy with a close follow-up must be warranted for all cases

Ataxia-telangiectasia (AT) is a rare multisystem, neurodegenerative genetic disorder. Patients should be closely monitored due to risk of malignancy development. Due to its wide clinical heterogeneity, it often leads physicians to an inaccurate or missed diagnosis, and insight into this rare disease is important. Pediatric patients may develop lymphomas and acute lymphoblastic leukemia (ALL). However, in adults, there are limited numbers of reports regarding association of AT and ALL. Rarely, ALL cases may present with pleural fluid involvement. In our study, we presented an adult case with AT, in which ALL involvement was detected in pleural fluid by flow cytometry (FC). A 20-years old male presented to emergency department with fever, shortness of breath and cough, as he had been followed with a diagnosis of AT. The following findings were detected in laboratory tests: Hb, 11.5 g/L; WBC, 36 x 10(9)/L; Plt: 140 x 10(9)/L. Blastic cells were observed in peripheral blood smear. On chest radiography, pleural fluid appearance was observed. On thorax CT, pleural fluid was detected in both hemithorax. Cytoplasmic CD3(+) and superficial CD3 (+), CD45 (+), CD5 (+), CD7 (+) and CD38 (+) was found in the flow cytometric evaluation of peripheral blood. Superficial CD3 (+), CD2 (+), CD5 (+) and CD7 (+) were found in flow cytometric evaluation of pleural fluid. These findings were considered as consistent with pleural involvement of T-ALL. FC is a potentially useful diagnostic tool for clinical practice and it is a convenience method which has an important role in detection of ALL in patients with pleural fluid.

Study background: Chronic granulomatous Disease (CGD) is a rare immunodeficiency caused by a defect in the leukocyte NADPH oxidase. This enzyme generates superoxide, which is needed for the killing of bacteria and fungi by phagocytic leukocytes. Most CGD patients have mutations in CYBB, the X-linked gene that encodes gp91phox, the catalytic subunit of the leukocyte NADPH oxidase. We report here three autosomal recessive CGD patients from two families with a homozygous mutation in NCF2, the gene that encodes p67phox, the activator subunit of the NADPH oxidase. Methods: Leukocyte NADPH oxidase activity, expression of oxidase components and gene sequences were measured with standard methods. The mutation found in the patients’ NCF2 gene was expressed as Ala202Valp67phox in K562 cells to measure its effect on NADPH oxidase activity. Translocation of the mutated p67phox from the cytosol of the patients’ neutrophils to the plasma membrane was measured by confocal microscopy and by Western blotting after membrane purification. Results: The exceptional feature of the A67 CGD patients reported here is that the p.Ala202Val mutation in the activation domain of p67phox was clearly hypomorphic: substantial expression of p67phox protein was noted and the NADPH oxidase activity in the neutrophils of the patients was 20-70% of normal, dependent on the stimulus used to activate the cells. The extent of Ala202Val-p67phox translocation to the plasma membrane during cell activation was also stimulus dependent. Ala202Val-p67phox in K562 cells mediated only about 3% of normal oxidase activity compared to cells transfected with the wild-type p67phox. Conclusion: The mutation found in NCF2 is the cause of the decreased NADPH oxidase activity and the (mild) clinical problems of the patients. We propose that the p.Ala202Val mutation has changed the conformation of the activation domain of p67phox, resulting in reduced activation of gp91phox.

A 43-year-old male patient was diagnosed with chronic myelogenous leukemia (CML), and hydroxyurea treatment was begun 3 months before consultation. Physical examination revealed the spleen 2 cm below the costal margin. The Philadelphia chromosome was positive. After hydroxyurea treatment, imatinib (Gleevec) was started. On the 15th day of imatinib treatment, the patient was admitted because of fever, diarrhea, and generalized rash. Informed consent was obtained. Whole blood count showed a hemoglobin concentration of 10.5 g/L, white cell count of 23,000/mm3, and platelet count of 240,000/mm3. Imatinib treatment was stopped to see if these symptoms were related to the drug. After cessation of imatinib, the fever resolved and the skin lesions disappeared. Imatinib was changed to dasatinib. The patient takes dasatinib at 100 mg and the treatment is on-going. A wide spectrum of dermatologic toxicities has been associated with imatinib, among which a maculopapular rash is the most common event. Imatinib-induced skin rash is believed to be due to the blockade of the c-kit protein, which is present in skin. Severe toxicity of skin rash, fever, and diarrhea associated with imatinib has been reported. The initial dose for chronic-phase disease, 400 mg/day, is very well tolerated. A higher risk for developing rash will occur with imatinib doses higher than 600 mg/day, advanced age, and female sex. In many patients who experience unacceptable adverse effects, transient dose reduction or treatment interruption allows for patients to resolve the adverse effects.

Background Despite major advances in the management of newborn infants, neonatal sepsis (NS) remain important causes of neonatal morbidity and mortality in the newborn, mainly among preterm and low birth weight infants. Objective: The aim of this study was to investigate the usefulness of neutrophil CD64 expression alone and together with other infection markers in NS. Methods: Peripheral blood samples were taken from 109 neonates, who were categorized into three groups: proven or clinical sepsis (n = 35); disease without infection (n = 42); and healthy controls (n = 32). Complete blood count with differential, interleukin-6 (IL-6), C-reactive protein (CRP), and cell surface expression of CD64 on neutrophils have been evaluated in a prospective manner as a diagnostic aid for NS. Results: Expression of CD64 was significantly enhanced in neonates with sepsis compared with newborns with disease without infection and healthy controls (P = 0.001 and P = 0.001, respectively). Cutoff values of IL-6, CRP, CD64(MFI), and CD64(i) were 24.9 pg/ml, 4.05 mg/l, 87.7, and 4.39, respectively. Sensitivity-negative predictive values of IL-6, CRP, and CD64(MFI)/CD64(i) were 80.0-90.6%, 80.0-88.8%, and 88.6-94.0%, respectively. Combining all three tests increased the sensitivity to 100%; however, specificity and positive predictive value decreased to 62.1 and 55.5%, respectively. Conclusions: CD64 might be used either alone or combined with IL-6 and CRP for early diagnosis of NS. The advantages of CD64 when compared with IL-6 and CRP are rapid quantitation, very small blood volume required, and easy handling. J. Clin. Lab. Anal. 24:363-370, 2010. (C) 2010 Wiley-Liss, Inc.